DisGeNET - a database of gene-disease associations

Hypercholesterolemia, Familial, C0020445

Variant: rs879254842 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs879254842

LDLR ; MIR6886

0.720

GeneticVariation

BEFREE

Two novel D151Y and M391T LDLR mutations causing LDLR transport defects in Thai patients with familial hypercholesterolemia.

20599862

2010

dbSNP:

rs879254842

LDLR ; MIR6886

0.720

GeneticVariation

BEFREE

Whether M412T is common either as a founder or recurrent mutation among FH Chinese Thai population is unknown at present and remains to be clarified.

16406299

2006

dbSNP:

rs879254842

LDLR ; MIR6886

0.720

GeneticVariation

CLINVAR

Mutation analysis of exon 9 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia.

11194027

2000

dbSNP:

rs879254842

LDLR ; MIR6886

0.720

CausalMutation

CLINVAR